KRT75

Summary

KRT75 (keratin 75, HGNC:24431) is a protein-coding gene on chromosome 12q13.13, encoding Keratin, type II cytoskeletal 75 (O95678). Plays a central role in hair and nail formation.

This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. This gene is expressed in the companion layer, upper germinative matrix region of the hair follicle, and medulla of the hair shaft. The encoded protein plays an essential role in hair and nail formation. Variations in this gene have been associated with the hair disorders pseudofolliculitis barbae (PFB) and loose anagen hair syndrome (LAHS).

Source: NCBI Gene 9119 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 102 total
• MANE Select transcript: NM_004693

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24431
Approved symbol	KRT75
Name	keratin 75
Location	12q13.13
Locus type	gene with protein product
Status	Approved
Aliases	K6HF
Ensembl gene	ENSG00000170454
Ensembl biotype	protein_coding
OMIM	609025
Entrez	9119

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000252245

RefSeq mRNA: 1 — MANE Select: NM_004693 NM_004693

CCDS: CCDS8827

Canonical transcript exons

ENST00000252245 — 9 exons

Exon	Start	End
ENSE00000837994	52431543	52431638
ENSE00001060858	52426817	52426851
ENSE00001153742	52433038	52433252
ENSE00001153749	52424070	52424755
ENSE00001153756	52433807	52434371
ENSE00001604363	52430541	52430705
ENSE00001613196	52432006	52432066
ENSE00001643802	52428256	52428476
ENSE00001705667	52428618	52428743

Expression profiles

Bgee: expression breadth broad, 51 present calls, max score 84.46.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 2.1279 / max 1501.0173, expressed in 92 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
131029	2.1279	92

Top tissues by expression

273 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
hair follicle	UBERON:0002073	84.46	gold quality
endometrium epithelium	UBERON:0004811	75.98	gold quality
tongue squamous epithelium	UBERON:0006919	73.41	gold quality
skin of abdomen	UBERON:0001416	68.48	gold quality
zone of skin	UBERON:0000014	68.24	gold quality
skin of leg	UBERON:0001511	67.77	gold quality
diaphragm	UBERON:0001103	66.81	gold quality
Brodmann (1909) area 10	UBERON:0013541	66.18	gold quality
CA1 field of hippocampus	UBERON:0003881	65.17	gold quality
triceps brachii	UBERON:0001509	64.24	gold quality
frontal pole	UBERON:0002795	64.20	gold quality
gluteal muscle	UBERON:0002000	64.08	gold quality
paraflocculus	UBERON:0005351	61.47	gold quality
middle frontal gyrus	UBERON:0002702	61.43	gold quality
skin of hip	UBERON:0001554	60.93	silver quality
olfactory bulb	UBERON:0002264	60.71	gold quality
cerebellar vermis	UBERON:0004720	60.70	gold quality
mucosa of urinary bladder	UBERON:0001259	60.67	gold quality
type B pancreatic cell	CL:0000169	60.46	gold quality
choroid plexus epithelium	UBERON:0003911	59.68	gold quality
quadriceps femoris	UBERON:0001377	59.50	gold quality
upper leg skin	UBERON:0004262	59.21	silver quality
vastus lateralis	UBERON:0001379	58.81	gold quality
mucosa of paranasal sinus	UBERON:0005030	57.69	gold quality
gingival epithelium	UBERON:0001949	56.88	gold quality
decidua	UBERON:0002450	56.55	gold quality
gingiva	UBERON:0001828	55.47	gold quality
myocardium	UBERON:0002349	54.54	gold quality
nipple	UBERON:0002030	54.32	silver quality
lateral nuclear group of thalamus	UBERON:0002736	53.79	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	2.79

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): E2F1

miRNA regulators (miRDB)

32 targeting KRT75, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-221-5P	99.86	65.45	1052
HSA-MIR-8073	99.86	65.21	1118
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4739	99.84	65.25	1832
HSA-MIR-1321	99.84	65.30	1811
HSA-MIR-4756-5P	99.84	64.98	1809
HSA-MIR-765	99.84	68.24	2442
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-149-3P	99.72	68.22	3963
HSA-MIR-4524A-3P	99.72	66.85	2406
HSA-MIR-6883-5P	99.69	68.05	3785
HSA-MIR-29B-2-5P	99.67	68.98	1726
HSA-MIR-4690-5P	99.65	66.24	813
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-1207-5P	99.49	69.11	2983
HSA-MIR-642A-3P	99.23	67.67	1258
HSA-MIR-642B-3P	99.23	67.67	1258
HSA-MIR-4763-3P	99.10	67.83	2649
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-4478	99.07	65.16	2320
HSA-MIR-194-5P	99.01	69.65	1465
HSA-MIR-6827-5P	98.46	64.88	1256
HSA-MIR-633	98.35	69.45	1167
HSA-MIR-3929	98.32	65.58	1026

Literature-anchored findings (GeneRIF, showing 9)

• Cytokeratin 5/6 can be a useful adjunct in cases with ductal hyperplasia but not in columnar cell lesions, on breast core biopsies (PMID:18499686)
• Positive staining for CK5/6 or CK17 was associated with a worse prognosis, high tumor grade and positive axillary lymph nodes. (PMID:19366057)
• K75 expression is closely associated with the process of desquamation of the inner root sheath of hair follicles. (PMID:19614992)
• we observed a possible association between CK5/6 expression in the primary tumor and multiple versus solitary breast carcinoma brain metastasis (PMID:21427063)
• There were differences between CK5/6, p63,CK34betaE12 and TTF-1 expression with tumor differentiation in squamous cell carcinoma or adenocarcinomas (PMID:25063315)
• Analysis of teeth from individuals carrying the KRT75(A161T) variant revealed an altered enamel structure and a marked reduction of enamel hardness, suggesting that a functional keratin network is required for the mechanical stability of tooth enamel. (PMID:25347471)
• CK5/6 have roles in biologically aggressive tumors likely to display resistance to trastuzumab ab initio in women diagnosed with HER2+ cancer (PMID:25742793)
• Studies show that mutation in epithelial hair keratin KRT75 leads to a skin condition called pseudofollicularis barbae. Carriers of this mutation have an altered enamel structure and mechanical properties leading to much higher prevalence of caries. [review] (PMID:26709044)
• The expression of CK5/6 and of P63 suggests a squamous differentiation including in the basaloid thyroid lymphoepithelial complexes (PMID:27130144)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Krt75	ENSMUSG00000022986
rattus_norvegicus	Krt75	ENSRNOG00000043203

Paralogs (68): KRT33A (ENSG00000006059), VIM (ENSG00000026025), KRT31 (ENSG00000094796), NEFM (ENSG00000104722), KRT23 (ENSG00000108244), KRT37 (ENSG00000108417), KRT32 (ENSG00000108759), KRT18 (ENSG00000111057), LMNB1 (ENSG00000113368), KRT36 (ENSG00000126337), KRT17 (ENSG00000128422), GFAP (ENSG00000131095), KRT34 (ENSG00000131737), KRT33B (ENSG00000131738), NES (ENSG00000132688), PRPH (ENSG00000135406), KRT85 (ENSG00000135443), KRT7 (ENSG00000135480), KRT71 (ENSG00000139648), INA (ENSG00000148798), LMNTD1 (ENSG00000152936), LMNA (ENSG00000160789), KRT84 (ENSG00000161849), KRT82 (ENSG00000161850), KRT80 (ENSG00000167767), KRT1 (ENSG00000167768), KRT24 (ENSG00000167916), KRT8 (ENSG00000170421), KRT78 (ENSG00000170423), KRT86 (ENSG00000170442), KRT6C (ENSG00000170465), KRT4 (ENSG00000170477), KRT74 (ENSG00000170484), KRT72 (ENSG00000170486), KRT83 (ENSG00000170523), BFSP2 (ENSG00000170819), KRT19 (ENSG00000171345), KRT15 (ENSG00000171346), KRT38 (ENSG00000171360), KRT13 (ENSG00000171401)

Protein

Protein identifiers

Keratin, type II cytoskeletal 75 — O95678 (reviewed: O95678)

Alternative names: Cytokeratin-75, Keratin-6 hair follicle, Keratin-75, Type II keratin-K6hf, Type-II keratin Kb18

All UniProt accessions (1): O95678

UniProt curated annotations — full annotation on UniProt →

Function. Plays a central role in hair and nail formation. Essential component of keratin intermediate filaments in the companion layer of the hair follicle.

Subunit / interactions. Heterodimer of a type I and a type II keratin. May associate with KRT17.

Tissue specificity. Highly expressed in hair follicles from scalp. Specifically expressed in the of the hair companion layer follicle, a single layered band of flat and vertically oriented cells between the cuboidal outer root sheath (ORS) cells and the inner root sheath (IRS) that stretches from the lowermost bulb region to the isthmus of the follicle. Also expressed in medullated hairs. In nails, it is almost exclusively present in the nail bed (at protein level).

Disease relevance. Loose anagen hair syndrome (LAHS) [MIM:600628] In LAHS, anagen hairs are easily pulled from the scalp. The hair is relatively sparse and does not grow long. Hair of fair color and hair shafts of reduced caliber, and an early age of onset are features. Usually the hairs are not fragile and there are no areas of breakage. The disease may be caused by variants affecting the gene represented in this entry.

Polymorphism. The Thr-161 variant may increase risk to develop pseudofolliculitis barbae (PFB) [MIM:612318]. PFB is a common hair disorder characterized by a pustular foreign body inflammatory reaction that is induced by ingrown hairs of the facial and submental (barbea) regions after regular shaving. It occurs predominantly in black males, while it is rather rare and usually far less severe in Caucasian males.

Miscellaneous. May be used as a marker of hair differentiation. There are two types of cytoskeletal and microfibrillar keratin, I (acidic) and II (neutral to basic) (40-55 and 56-70 kDa, respectively).

Similarity. Belongs to the intermediate filament family.

RefSeq proteins (1): NP_004684* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003054	Keratin_II	Family
IPR018039	IF_conserved	Conserved_site
IPR032444	Keratin_2_head	Domain
IPR039008	IF_rod_dom	Domain

Pfam: PF00038, PF16208

UniProt features (25 total): sequence variant 11, region of interest 9, chain 1, domain 1, compositionally biased region 1, site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95678-F1	69.85	0.46

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Catalytic / active sites (1): 400 (stutter)

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6805567	Keratinization
R-HSA-6809371	Formation of the cornified envelope
R-HSA-1266738	Developmental Biology

MSigDB gene sets: 92 (showing top): GOBP_HEMATOPOIETIC_PROGENITOR_CELL_DIFFERENTIATION, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, MYOGENIN_Q6, GU_PDEF_TARGETS_DN, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, ENK_UV_RESPONSE_KERATINOCYTE_UP, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, MARTINEZ_RB1_TARGETS_UP, TGCTGAY_UNKNOWN, HUPER_BREAST_BASAL_VS_LUMINAL_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_DN, GOBP_EPIDERMIS_DEVELOPMENT, GOBP_KERATINIZATION, GOBP_SKIN_DEVELOPMENT

GO Biological Process (3): hematopoietic progenitor cell differentiation (GO:0002244), keratinization (GO:0031424), intermediate filament organization (GO:0045109)

GO Molecular Function (3): structural molecule activity (GO:0005198), structural constituent of skin epidermis (GO:0030280), protein binding (GO:0005515)

GO Cellular Component (5): cornified envelope (GO:0001533), cytosol (GO:0005829), intermediate filament (GO:0005882), keratin filament (GO:0045095), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Developmental Biology	1
Keratinization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
hemopoiesis	1
cell differentiation	1
keratinocyte differentiation	1
multicellular organismal process	1
intermediate filament cytoskeleton organization	1
supramolecular fiber organization	1
molecular_function	1
structural molecule activity	1
binding	1
plasma membrane	1
cytoplasm	1
cellular anatomical structure	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1
intermediate filament	1
extracellular vesicle	1

Protein interactions and networks

STRING

1054 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRT75	AMZ1	Q400G9	445
KRT75	C20orf141	Q9NUB4	435
KRT75	CCDC57	Q2TAC2	426
KRT75	OR4D9	Q8NGE8	425
KRT75	FASTKD3	Q14CZ7	424
KRT75	OR1K1	Q8NGR3	417
KRT75	NKAIN4	Q8IVV8	410
KRT75	STK31	Q9BXU1	406
KRT75	RDM1	Q8NG50	402
KRT75	OR52W1	Q6IF63	401
KRT75	FAM111A	Q96PZ2	398
KRT75	CMYA5	Q8N3K9	391
KRT75	OR6T1	Q8NGN1	391
KRT75	DNAJC12	Q9UKB3	389
KRT75	DMRT3	Q9NQL9	388

IntAct

406 interactions, top by confidence:

A	B	Type	Score
KRT75	MYOZ3	psi-mi:“MI:0915”(physical association)	0.560
KRT75	ZWINT	psi-mi:“MI:0915”(physical association)	0.560
KRT75	CCDC197	psi-mi:“MI:0915”(physical association)	0.560
Kifc5b	KPNA3	psi-mi:“MI:0914”(association)	0.350
CXXC1	HCFC1	psi-mi:“MI:0914”(association)	0.350
Nup214	NUP155	psi-mi:“MI:0914”(association)	0.350
SORT1	SH3PXD2B	psi-mi:“MI:0914”(association)	0.350
Prdm16	ESYT2	psi-mi:“MI:0914”(association)	0.350
CAND1	GTPBP10	psi-mi:“MI:0914”(association)	0.350
CUL1	LGALS8	psi-mi:“MI:0914”(association)	0.350
CUL4A	HAX1	psi-mi:“MI:0914”(association)	0.350
DCUN1D1	RGSL1	psi-mi:“MI:0914”(association)	0.350
COPS5	FBLL1	psi-mi:“MI:0914”(association)	0.350
CUL2	ANXA2P2	psi-mi:“MI:0914”(association)	0.350
CUL4B	APBB1	psi-mi:“MI:0914”(association)	0.350
NEDD8	DDX3X	psi-mi:“MI:0914”(association)	0.350
COPS6	DDX3X	psi-mi:“MI:0914”(association)	0.350
CUL3	PXDNL	psi-mi:“MI:0914”(association)	0.350
CUL5	DDX3X	psi-mi:“MI:0914”(association)	0.350
NCDN	KRT75	psi-mi:“MI:0915”(physical association)	0.000
CPNE7	KRT75	psi-mi:“MI:0915”(physical association)	0.000
KRT75	VIM	psi-mi:“MI:0915”(physical association)	0.000
POLR1C	KRT75	psi-mi:“MI:0915”(physical association)	0.000
TCHP	KRT75	psi-mi:“MI:0915”(physical association)	0.000
MYO15B	KRT75	psi-mi:“MI:0915”(physical association)	0.000
TRIML2	KRT75	psi-mi:“MI:0915”(physical association)	0.000
CARD10	KRT75	psi-mi:“MI:0915”(physical association)	0.000
LMO4	KRT75	psi-mi:“MI:0915”(physical association)	0.000
C1orf216	KRT75	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (211): KRT75 (Affinity Capture-MS), KRT75 (Affinity Capture-MS), KRT75 (Affinity Capture-MS), KRT75 (Affinity Capture-MS), KRT75 (Affinity Capture-MS), KRT75 (Affinity Capture-MS), KRT75 (Affinity Capture-MS), KRT75 (Affinity Capture-MS), KRT75 (Two-hybrid), KRT75 (Two-hybrid), KRT75 (Two-hybrid), KRT75 (Two-hybrid), KRT75 (Two-hybrid), KRT75 (Two-hybrid), KRT75 (Two-hybrid)

ESM2 similar proteins: A5A6M6, A5A6M8, O95678, P02535, P02537, P02538, P04104, P04259, P04264, P06394, P07744, P08776, P12035, P13645, P13647, P16878, P18520, P19013, P35527, P35908, P48668, P50446, Q01546, Q08D91, Q148H7, Q29426, Q2M2I5, Q3TTY5, Q3UV17, Q4FZU2, Q5XQN5, Q6EIY9, Q6EIZ0, Q6EIZ1, Q6IFW6, Q6IFZ6, Q6IG00, Q6IG01, Q6IG02, Q6IG05

Diamond homologs: A0A8C0N8E3, A5A6M8, A5A6N0, A6QQJ3, B4F721, O62654, O77788, O93532, O95678, P02538, P02540, P02541, P02542, P02543, P02544, P02547, P02548, P03995, P04259, P05786, P05787, P07196, P07197, P08551, P08552, P08553, P08670, P08729, P08776, P09654, P11679, P12035, P12036, P12839, P13647, P14136, P15331, P16053, P16878, P16884

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 151 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Formation of the cornified envelope	18	18.2×	1e-15
Keratinization	18	11.5×	2e-12
Neddylation	14	7.6×	4e-07

GO biological processes:

GO term	Partners	Fold	FDR
morphogenesis of an epithelium	16	42.0×	6e-20
intermediate filament organization	21	38.6×	2e-25
epithelial cell differentiation	17	22.8×	2e-16
intrinsic apoptotic signaling pathway	6	16.4×	3e-04
G1/S transition of mitotic cell cycle	7	10.7×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

102 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	84
Likely benign	8
Benign	7

Top pathogenic / likely-pathogenic (0)

SpliceAI

839 predictions. Top by Δscore:

Variant	Effect	Δscore
12:52428250:CCTCA:C	donor_loss	1.0000
12:52428253:CAC:C	donor_loss	1.0000
12:52428254:A:C	donor_loss	1.0000
12:52428255:C:CG	donor_loss	1.0000
12:52428472:GAACA:G	acceptor_gain	1.0000
12:52428473:AACA:A	acceptor_gain	1.0000
12:52428474:ACA:A	acceptor_gain	1.0000
12:52428475:CA:C	acceptor_gain	1.0000
12:52428475:CAC:C	acceptor_gain	1.0000
12:52428477:C:CC	acceptor_gain	1.0000
12:52428612:CTTTA:C	donor_loss	1.0000
12:52428613:TTTA:T	donor_loss	1.0000
12:52428614:TTAC:T	donor_loss	1.0000
12:52428615:TACC:T	donor_loss	1.0000
12:52428617:CCTG:C	donor_gain	1.0000
12:52428739:TCGTA:T	acceptor_gain	1.0000
12:52428740:CGTA:C	acceptor_gain	1.0000
12:52428740:CGTAC:C	acceptor_gain	1.0000
12:52428741:GTA:G	acceptor_gain	1.0000
12:52428742:TA:T	acceptor_gain	1.0000
12:52428743:ACTGA:A	acceptor_loss	1.0000
12:52428744:C:CC	acceptor_gain	1.0000
12:52428744:CT:C	acceptor_loss	1.0000
12:52428754:C:CT	acceptor_gain	1.0000
12:52430538:CA:C	donor_loss	1.0000
12:52430539:A:AC	donor_gain	1.0000
12:52430540:C:CC	donor_gain	1.0000
12:52430540:CCTT:C	donor_loss	1.0000
12:52430703:CTC:C	acceptor_gain	1.0000
12:52430729:C:CT	acceptor_gain	1.0000

AlphaMissense

3613 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:52433825:G:C	F160L	0.996
12:52433825:G:T	F160L	0.996
12:52433827:A:G	F160L	0.996
12:52433826:A:C	F160C	0.993
12:52433826:A:G	F160S	0.993
12:52428446:C:G	A398P	0.992
12:52430564:C:G	A338P	0.992
12:52432009:T:A	K257N	0.992
12:52432009:T:G	K257N	0.992
12:52428277:A:G	L454P	0.990
12:52428283:C:G	R452P	0.990
12:52428315:C:A	K441N	0.990
12:52428315:C:G	K441N	0.990
12:52428328:A:G	L437P	0.990
12:52428413:C:G	A409P	0.990
12:52430572:C:G	R335P	0.989
12:52428307:A:G	L444P	0.988
12:52430585:C:G	A331P	0.988
12:52433834:G:C	N157K	0.988
12:52433834:G:T	N157K	0.988
12:52433835:T:A	N157I	0.988
12:52428293:C:G	A449P	0.987
12:52428733:A:G	L349P	0.987
12:52428391:A:G	L416P	0.985
12:52428700:A:G	L360P	0.985
12:52432010:T:A	K257I	0.985
12:52432043:C:G	R246P	0.985
12:52433233:T:G	Q173P	0.985
12:52428317:T:C	K441E	0.984
12:52428649:A:G	L377P	0.984

dbSNP variants (sampled 300 via entrez): RS1000146485 (12:52433219 C>T), RS1000210807 (12:52431973 A>G), RS1000218797 (12:52434234 G>A,C,T), RS1000481159 (12:52433461 T>C), RS1000671334 (12:52427816 C>T), RS1000814547 (12:52432974 C>T), RS1002221608 (12:52424313 G>A), RS1002686156 (12:52425730 A>G), RS1002758820 (12:52427419 A>G), RS1002985579 (12:52432674 A>G), RS1002987222 (12:52431341 G>A), RS1003222523 (12:52429992 C>G), RS1003289627 (12:52431867 G>A,T), RS1003628323 (12:52425620 C>A,T), RS1003806414 (12:52425273 A>C)

Disease associations

OMIM: gene MIM:609025 | disease phenotypes: MIM:612318

GenCC curated gene-disease

Mondo (1): Pseudofolliculitis barbae (MONDO:0012865)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

0 associations (top):

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C563016	pseudofolliculitis barbae (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
(+)-JQ1 compound	decreases expression	2
Arsenic	affects methylation, decreases expression	2
Copper	affects binding, decreases expression, increases expression	2
4-oxoretinoic acid	decreases expression	1
pyrogallol 1,3-dimethyl ether	affects localization, decreases expression, affects cotreatment, increases expression	1
arsenite	affects binding, increases reaction	1
ferrous chloride	increases expression	1
dimethylarsinous acid	increases expression	1
abrine	increases expression	1
NSC 689534	affects binding, increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Alitretinoin	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Dinitrochlorobenzene	affects binding	1
Disulfiram	affects binding, decreases expression	1
Estradiol	affects expression	1
Furaldehyde	affects cotreatment, increases expression, affects localization, decreases expression	1
Methylcholanthrene	affects binding, increases reaction	1
Mustard Gas	increases expression	1
Plant Extracts	decreases expression, affects cotreatment	1
Silicon Dioxide	increases expression	1
Sodium Chloride	decreases expression, affects cotreatment, affects localization, increases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Tretinoin	decreases expression	1
Isotretinoin	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

7 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT04403282	PHASE4	TERMINATED	Topical Eflornithine for Pseudofolliculitis Barbae: Randomized Controlled Trial
NCT00176995	PHASE2	COMPLETED	Effect of 15% Eflornithine Hydrochloride Cream on African-American Males With Pseudofolliculitis Barbae
NCT04220502	EARLY_PHASE1	WITHDRAWN	Magic Shave Powder Gold’s Affects on the Occurrence of Pseudofolliculitis Barbae
NCT00402129	Not specified	COMPLETED	Low Fluence 1064nm Laser Hair Reduction for Pseudofolliculitis Barbae in Skin Types IV, V, VI
NCT03043534	Not specified	COMPLETED	Pre-Shave Gel and Brush in Pseudofolliculitis Barbae
NCT03569956	Not specified	ACTIVE_NOT_RECRUITING	Shaving Satisfaction in Males With Skin Irritation From Shaving
NCT04993066	Not specified	COMPLETED	Clinical Evaluation to Assess the Safety and Efficacy of GentleMax Pro Plus